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Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in Argentina: Report from a Referral Hospital Register

  • Original Contributions
  • Published:
Diseases of the Colon & Rectum

Abstract

Purpose

The first Argentine experience with epidemiologic, molecular, and genetic counseling data is reported.

Methods

We analyzed 43 families fulfilling Amsterdam criteria identified from a prospective database with data from 779 relatives.

Results

Eleven families (25.6 percent) presented as Lynch I, 29 (67.4 percent) as Lynch II, and 3 (7 percent) as Muir-Torre syndrome. Among the 306 affected members, 197 cases of colorectal cancer were identified (mean age at diagnosis, 52.1 (range, 21–90) years). The most frequent extracolonic tumors were gastric adenocarcinoma in males and endometrium adenocarcinoma in females. A high incidence of breast cancer was observed (16 cases among 155 females, crude rate: 11,594.20/100,000). Twenty-seven patients (8.8 percent) developed more than one tumor. These patients were younger than those with only one tumor (45 vs. 51 years; P = 0.001). In 5 of 11 patients who underwent molecular sequencing, a pathologic mutation was found. A novel C deletion at 1910 nucleotide, codon 637, exon 12 of MSH2 gene was identified in a family with a strong aggregation of breast cancer with lack of MSH2 immunohistochemical staining. For 78.2 percent of counseled individuals, this session represented the first time they received information, and 73.9 percent stated that their physicians were unaware of their family background.

Conclusions

Argentine families presented a high incidence of stomach cancer. The elevated incidence of breast cancer and its association with a novel hMSH2 mutation bring to consideration the inclusion of this malignancy as part of the syndrome. A lack of awareness by both physicians and persons at risk was observed.

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Authors and Affiliations

  1. Department of Colorectal Surgery, Hospital Italiano de Buenos Aires, Guayaquil 226, 7B (1424) Capital Federal, Buenos Aires, Argentina

    Carlos A. Vaccaro M.D., Fernando Bonadeo M.D., Analía V. Roverano M.D., Guillermo Ojea-Quintana M.D. & Mario L. Benati M.D.

  2. Department of Medical Genetics, University of Helsinki, Helsinki, Finland

    Paivi Peltomaki M.D. & Elise Renkonen Ph.D.

  3. Division of Human Cancer Genetics, Ohio State University, Columbus, Ohio, OH, USA

    Shashi Bala Ph.D.

  4. Basic Science and Experimental Medicine Institute, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina

    Maria A. Redal Ph.D.

  5. Service of Pathology, Hospital Italiano de Buenos Aires, Buenos Aires, Argentina

    Esteban Mocetti M.D., Eduardo Mullen M.D. & Hernan Garcia Rivello M.D.

  6. Creighton’s Hereditary Cancer Institute, Department of Preventive Medicine, Creighton University School of Medicine, Omaha, Nebraska, CA, USA

    Mary B. Clark M.S.W., Jane F. Lynch B.S.N. & Henry T. Lynch M.D.

Authors
  1. Carlos A. Vaccaro M.D.
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  2. Fernando Bonadeo M.D.
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  3. Analía V. Roverano M.D.
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  4. Paivi Peltomaki M.D.
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  5. Shashi Bala Ph.D.
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  6. Elise Renkonen Ph.D.
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  7. Maria A. Redal Ph.D.
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  8. Esteban Mocetti M.D.
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  9. Eduardo Mullen M.D.
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  10. Guillermo Ojea-Quintana M.D.
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  11. Mario L. Benati M.D.
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  12. Hernan Garcia Rivello M.D.
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  13. Mary B. Clark M.S.W.
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  14. Jane F. Lynch B.S.N.
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  15. Henry T. Lynch M.D.
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Corresponding author

Correspondence to Carlos A. Vaccaro M.D..

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Cite this article

Vaccaro, C.A., Bonadeo, F., Roverano, A.V. et al. Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in Argentina: Report from a Referral Hospital Register. Dis Colon Rectum 50, 1604–1611 (2007). https://doi.org/10.1007/s10350-007-9037-y

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  • DOI: https://doi.org/10.1007/s10350-007-9037-y

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